Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

American Journal of Human Genetics

Volumn 95, Issue 5, 2014, Pages 579-583

  Lalani, Seema R ^a   Zhang, Jing ^a   Schaaf, Christian P ^a,b   Brown, Chester W ^a   Magoulas, Pilar ^a   Tsai, Anne Chun Hui ^c   El Gharbawy, Areeg ^d   Wierenga, Klaas J ^e   Bartholomew, Dennis ^f   Fong, Chin To ^g   Barbaro Dieber, Tina ^h   Kukolich, Mary K ^h   Burrage, Lindsay C ^a   Austin, Elise ^a   Keller, Kory ^c   Pastore, Matthew ^f   Fernandez, Fabio ^a   Lotze, Timothy ^a   Wilfong, Angus ^a   Purcarin, Gabriela ^e   Zhu, Wenmiao ^a   Craigen, William J ^a   McGuire, Marianne ^a   Jain, Mahim ^a   Cooney, Erin ^a   Azamian, Mahshid ^a   Bainbridge, Matthew N ^a   Muzny, Donna M ^a   Boerwinkle, Eric ^a,i   Person, Richard E ^a   Niu, Zhiyv ^a   Eng, Christine M ^a   Lupski, James R ^a,b   Gibbs, Richard A ^a   Beaudet, Arthur L ^a   Yang, Yaping ^a   Wang, Meng C ^a   Xia, Fan ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^f NATIONWIDE CHILDREN S HOSPITAL   (United States)

^g UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^h Pediatric Cardiothoracic Surgery   (United States)

ⁱ UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; TRANSCRIPTIONAL ACTIVATOR PROTEIN PUR A; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; PURA PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

5Q31.3 MICRODELETION SYNDROME; ADOLESCENT; ANIMAL EXPERIMENT; ARTICLE; BRAIN DISEASE; CENTRAL SLEEP APNEA SYNDROME; CHILD; CHROMOSOME DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; DYSPHAGIA; FEEDING DIFFICULTY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; LENNOX GASTAUT SYNDROME; MALE; MYOPATHY; NEONATAL HYPOTONIA; NEWBORN DISEASE; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PULMONARY ASPIRATION; RESPIRATORY FAILURE; SCHOOL CHILD; SEIZURE; SLEEP DISORDERED BREATHING; AMINO ACID SEQUENCE; ANIMAL; CAENORHABDITIS ELEGANS; CHROMOSOME 5; CHROMOSOME DELETION; CHROMOSOME MAP; GENETICS; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; MUTATION; NUCLEOTIDE SEQUENCE; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CAENORHABDITIS ELEGANS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; DNA-BINDING PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MUTATION; SEIZURES; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84922329183     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.09.014     Document Type: Article

References (14)

1. Shimojima, K., Isidor, B., Le Caignec, C., Kondo, A., Sakata, S., Ohno, K., and Yamamoto, T. (2011). A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am. J. Med. Genet. A. 155A, 732-736.
2. Hosoki, K., Ohta, T., Natsume, J., Imai, S., Okumura, A., Matsui, T., Harada, N., Bacino, C.A., Scaglia, F., Jones, J.Y., et al. (2012). Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am. J. Med. Genet. A. 158A, 1891-1896.
3. Brown, N., Burgess, T., Forbes, R., McGillivray, G., Kornberg, A., Mandelstam, S., and Stark, Z. (2013). 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am. J. Med. Genet. A. 161A, 2604-2608.
4. Rosenfeld, J.A., Drautz, J.M., Clericuzio, C.L., Cushing, T., Raskin, S., Martin, J., Tervo, R.C., Pitarque, J.A., Nowak, D.M., Karolak, J.A., et al. (2011). Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Am. J. Med. Genet. A. 155A, 1906-1916.
5. Yang, Y., Muzny, D.M., Reid, J.G., Bainbridge, M.N.,Willis, A., Ward, P.A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. (2013). Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369, 1502-1511.
6. Bergemann, A.D., and Johnson, E.M. (1992). The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication. Mol. Cell. Biol. 12, 1257-1265.
7. White, M.K., Johnson, E.M., and Khalili, K. (2009). Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle 8, 1-7.
8. Khalili, K., Del Valle, L., Muralidharan, V., Gault, W.J., Darbinian, N., Otte, J., Meier, E., Johnson, E.M., Daniel, D.C., Kinoshita, Y., et al. (2003). Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol. Cell. Biol. 23, 6857-6875.
9. Hokkanen, S., Feldmann, H.M., Ding, H., Jung, C.K., Bojarski, L., Renner-Müller, I., Schüller, U., Kretzschmar, H., Wolf, E., and Herms, J. (2012). Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum. Mol. Genet. 21, 473-484.
10. Johnson, E.M., Kinoshita, Y., Weinreb, D.B., Wortman, M.J.,Simon, R., Khalili, K., Winckler, B., and Gordon, J. (2006). Role of Pur alpha in targeting mRNA to sites of translation in hippocampal neuronal dendrites. J. Neurosci. Res. 83, 929-943.
11. Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T.C., Liu, H., Feng, Y., andWarren, S.T. (2007). Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 55, 556-564.
12. Aumiller, V., Graebsch, A., Kremmer, E., Niessing, D., and Förstemann, K. (2012). Drosophila Pur-A binds to trinucleotiderepeat containing cellular RNAs and translocates to the early oocyte. RNA Biol. 9, 633-643.
13. Graebsch, A., Roche, S., and Niessing, D. (2009). X-ray structure of Pur-alpha reveals aWhirly-like fold and an unusual nucleic- acid binding surface. Proc. Natl. Acad. Sci. USA 106, 18521-18526.
14. Hoyer, J., Ekici, A.B., Endele, S., Popp, B., Zweier, C.,Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., et al. (2012). Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a frequent cause of intellectual disability. Am. J. Hum. Genet. 90, 565-572.